Canonical Allele Identifier: CA349427827

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179402317T>A (hg19) ; chr2:g.178537590T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537590T>A , CM000664.2:g.178537590T>A	GRCh38
NC_000002.11:g.179402317T>A , CM000664.1:g.179402317T>A	GRCh37
NC_000002.10:g.179110563T>A	NCBI36
NG_011618.3:g.298213A>T , LRG_391:g.298213A>T
NG_051363.1:g.19764T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.91913A>T (TTN)	ENSP00000343764.6:p.Tyr30638Phe
ENST00000342175.11:c.72998A>T (TTN)	ENSP00000340554.6:p.Tyr24333Phe
ENST00000359218.10:c.72797A>T (TTN)	ENSP00000352154.5:p.Tyr24266Phe
ENST00000342175.10:c.72998A>T (TTN)	ENSP00000340554.6:p.Tyr24333Phe
ENST00000342992.10:c.91913A>T (TTN)	ENSP00000343764.6:p.Tyr30638Phe
ENST00000359218.9:c.72797A>T (TTN)	ENSP00000352154.5:p.Tyr24266Phe
ENST00000460472.6:c.72422A>T (TTN)	ENSP00000434586.1:p.Tyr24141Phe
ENST00000589042.5:c.99617A>T (TTN) MANE Select	ENSP00000467141.1:p.Tyr33206Phe
ENST00000591111.5:c.94694A>T (TTN)	ENSP00000465570.1:p.Tyr31565Phe
ENST00000615779.4:c.94694A>T (TTN)	ENSP00000483597.1:p.Tyr31565Phe
NM_001256850.1:c.94694A>T (TTN)	NP_001243779.1:p.Tyr31565Phe
NM_001267550.2:c.99617A>T (TTN) MANE Select	NP_001254479.2:p.Tyr33206Phe
NM_003319.4:c.72422A>T (TTN)	NP_003310.4:p.Tyr24141Phe
NM_133378.4:c.91913A>T (TTN)	NP_596869.4:p.Tyr30638Phe
NM_133432.3:c.72797A>T (TTN)	NP_597676.3:p.Tyr24266Phe
NM_133437.4:c.72998A>T (TTN)	NP_597681.4:p.Tyr24333Phe
NR_038271.1:n.446+13954T>A (TTN-AS1)
NR_038272.1:n.546T>A (TTN-AS1)
XM_011511729.1:c.98714A>T (TTN)	XP_011510031.1:p.Tyr32905Phe
XM_011511730.1:c.72608A>T (TTN)	XP_011510032.1:p.Tyr24203Phe
XM_011511731.1:c.72467A>T (TTN)	XP_011510033.1:p.Tyr24156Phe
XM_017004819.1:c.98510A>T (TTN)	XP_016860308.1:p.Tyr32837Phe
XM_017004820.1:c.93908A>T (TTN)	XP_016860309.1:p.Tyr31303Phe
XM_017004821.1:c.93905A>T (TTN)	XP_016860310.1:p.Tyr31302Phe
XM_017004822.1:c.90947A>T (TTN)	XP_016860311.1:p.Tyr30316Phe
XM_017004823.1:c.72563A>T (TTN)	XP_016860312.1:p.Tyr24188Phe
XM_024453094.1:c.94058A>T (TTN)	XP_024308862.1:p.Tyr31353Phe
XM_024453095.1:c.94055A>T (TTN)	XP_024308863.1:p.Tyr31352Phe
XM_024453096.1:c.93488A>T (TTN)	XP_024308864.1:p.Tyr31163Phe
XM_024453097.1:c.90830A>T (TTN)	XP_024308865.1:p.Tyr30277Phe
XM_024453098.1:c.90749A>T (TTN)	XP_024308866.1:p.Tyr30250Phe
XM_024453099.1:c.72512A>T (TTN)	XP_024308867.1:p.Tyr24171Phe
XM_024453100.1:c.62366A>T (TTN)	XP_024308868.1:p.Tyr20789Phe